NM_000465.4(BARD1):c.1885T>A (p.Trp629Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 29, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000777258.6

Allele description [Variation Report for NM_000465.4(BARD1):c.1885T>A (p.Trp629Arg)]

NM_000465.4(BARD1):c.1885T>A (p.Trp629Arg)

Gene:

BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.1885T>A (p.Trp629Arg)

HGVS:

NC_000002.12:g.214745085A>T
NG_012047.3:g.69627T>A
NM_000465.4:c.1885T>AMANE SELECT
NM_001282543.2:c.1828T>A
NM_001282545.2:c.532T>A
NM_001282548.2:c.475T>A
NM_001282549.2:c.365-14577T>A
NP_000456.2:p.Trp629Arg
NP_001269472.1:p.Trp610Arg
NP_001269474.1:p.Trp178Arg
NP_001269477.1:p.Trp159Arg
LRG_297t1:c.1885T>A
LRG_297:g.69627T>A
LRG_297p1:p.Trp629Arg
NC_000002.11:g.215609809A>T
NG_012047.2:g.69620T>A
NM_000465.2:c.1885T>A
NM_000465.3:c.1885T>A
NR_104212.2:n.1850T>A
NR_104215.2:n.1793T>A
NR_104216.2:n.1049T>A

Protein change:

W159R

Links:

dbSNP: rs1020097535

NCBI 1000 Genomes Browser:

rs1020097535

Molecular consequence:

NM_001282549.2:c.365-14577T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000465.4:c.1885T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.1828T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.532T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.475T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.1850T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.1793T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.1049T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000912959	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 23, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001174140	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 29, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000912959

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 23, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001174140

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 29, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

Ramus SJ, Song H, Dicks E, Tyrer JP, Rosenthal AN, Intermaggio MP, Fraser L, Gentry-Maharaj A, Hayward J, Philpott S, Anderson C, Edlund CK, Conti D, Harrington P, Barrowdale D, Bowtell DD, Alsop K, Mitchell G; AOCS Study Group., Cicek MS, Cunningham JM, Fridley BL, et al.

J Natl Cancer Inst. 2015 Aug 27;107(11). doi:pii: djv214. 10.1093/jnci/djv214. Print 2015 Nov.

PubMed [citation]

PMID:: 26315354
PMCID:: PMC4643629

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000912959.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Ambry Genetics, SCV001174140.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.W629R variant (also known as c.1885T>A), located in coding exon 9 of the BARD1 gene, results from a T to A substitution at nucleotide position 1885. The tryptophan at codon 629 is replaced by arginine, an amino acid with dissimilar properties. In one study, this alteration was observed in 1/3431 controls while absent in the 3236 cases with invasive epithelial ovarian cancer (Ramus SJ et al. J. Natl. Cancer Inst., 2015 Nov;107:). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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